Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
1 records shown · first 60Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
PMID 30345601 | DOI 10.1002/ajmg.a.40627 · American journal of medical genetics. Part A · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H284Y | “These missense mutations include c.320C > T (p.S107 L), c.850C > T (p.H284Y), and c.851A > G (p.H284R) in the PGAP3 gene.” | 0.95 | hgvs_regex_v1 |
| gene | PGAP3 | “The utilization of homozygosity mapping coupled with PGAP3 sequencing and whole exome sequencing facilitated the mutation detection in these patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Additionally, fracture, bilateral coxa valga, camptodactyly, truncal obesity, and hyperpigmented macules of the upper thigh, each was seen once and was not described before with HPMRS4.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.” | 0.93 | phenotype_alias_lexicon_v2 |